Table 2 Rare variant-based gene-centric analysis identified lung cancer-associated genes, which were replicated in the matched annotation category in the replication stage

From: Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese

Gene name

Chr

Start

End

Discovery category

Discovery P-valuea

Replication category

Replication P-valuea

ENO1

1

8861000

8879190

Promoter

1.52 × 10−04

Promoter

2.92 × 10−03

EFHD2

1

15409888

15430339

Enhancer

7.08 × 10−05

Enhancer

2.18 × 10−02

MACF1

1

39081316

39487177

Missense

9.03 × 10−05

Missense

4.74 × 10−02

LRRFIP2

3

37052626

37183689

Promoter

7.72 × 10−05

Promoter

1.64 × 10−02

PSMB9

6

32844136

32859851

Enhancer

1.58 × 10−04

Enhancer

3.15 × 10−02

C11orf21

11

2295645

2303049

Enhancer

1.94 × 10−05

Enhancer

2.80 × 10−02

RAD52

12

911736

990053

Missense

4.22 × 10−05

Missense

1.96 × 10−02

RITA1

12

113185526

113192368

Enhancer

1.13 × 10−04

Enhancer

4.56 × 10−02

PLA2G4C

19

48047843

48110817

Promoter

5.67 × 10−05

Promoter

7.66 × 10−04

  1. Build: GRCh 38. Here, we considered DHS-derived and CAGE-derived promoter/enhancer annotation as the same category.
  2. aSTAAR-O test